present in Gene: FERMT1
present in Chromosome: 20
Position on Chromosome: 6107570
Alleles of this Variant: G/A
rs121918293 in
FERMT1 gene and
Poikiloderma of Kindler
PMID 14962093 2004 Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
PMID 12789646 2003 Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
PMID 15313809 2004 Kindler syndrome in native Americans from Panama: report of 26 cases.